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The clinical presentation of bradyopsia in children

Arif O Khan1

  • 1Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|November 7, 2017
PubMed

Insights

Diagnosing bradyopsia in children is difficult due to normal eye exams. A specific RGS9 gene mutation appears common in the Arabian Peninsula, aiding diagnosis.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Bradyopsia (slow visual processing) diagnosis in children is challenging.
  • Ophthalmic examinations and visual acuity tests can be misleading in affected children.

Observation:

  • This case series describes 5 children from 3 Arab families with bradyopsia.
  • All affected children shared a consistent homozygous RGS9 frameshift mutation.

Findings:

  • The identified RGS9 mutation is likely a founder mutation for the Arabian Peninsula.
  • This genetic finding aids in diagnosing bradyopsia in this population.

Implications:

  • Genetic testing for the RGS9 mutation can improve bradyopsia diagnosis in children.
  • Understanding the genetic basis of bradyopsia facilitates targeted research and potential therapies.

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